Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0702139
Disease: Congenital absence of external ear
Congenital absence of external ear 		11 0 8 0.62 0 0
CUI: C0266009
Disease: Congenital absence of breast
Congenital absence of breast 		15 0 8 0.47 0 0
CUI: C0685776
Disease: Congenital absence of mandible
Congenital absence of mandible 		14 0 7 0.41 0 0
CUI: C1868578
Disease: Patellar aplasia
Patellar aplasia 		17 0 7 0.35 0 0
CUI: C1857665
Disease: Aplastic clavicle
Aplastic clavicle 		19 0 7 0.32 0 0
CUI: C1969653
Disease: MUNGAN SYNDROME
MUNGAN SYNDROME 		15 0 5 0.25 0 0
CUI: C0014588
Disease: Epispadias
Epispadias 		30 0 7 0.21 0 0
CUI: C1844527
Disease: Clitoral hypoplasia
Clitoral hypoplasia 		30 0 7 0.21 0 0
CUI: C1849295
Disease: Hypoplastic labia minora
Hypoplastic labia minora 		30 0 7 0.21 0 0
CUI: C1855650
Disease: Birth length less than 3rd percentile
Birth length less than 3rd percentile 		21 0 5 0.19 0 0
CUI: C0566899
Disease: Small labia majora
Small labia majora 		35 0 7 0.18 0 0
CUI: C1833144
Disease: Slender long bone
Slender long bone 		35 0 7 0.18 0 0
CUI: C1866190
Disease: Atresia of the external auditory canal
Atresia of the external auditory canal 		44 0 8 0.17 0 0
CUI: C1857074
Disease: Absent sternal ossification
Absent sternal ossification 		5 0 2 0.15 0 0
CUI: C0432103
Disease: Submucous cleft of hard palate
Submucous cleft of hard palate 		55 0 8 0.14 0 0
CUI: C0266013
Disease: Congenital hypoplasia of breast
Congenital hypoplasia of breast 		38 0 5 0.12 0 0
CUI: C1858539
Disease: Shawl scrotum
Shawl scrotum 		19 0 3 0.12 0 0
CUI: C0264353
Disease: Bronchomalacia
Bronchomalacia 		10 0 2 0.11 0 0
CUI: C1868577
Disease: Patella aplasia-hypoplasia
Patella aplasia-hypoplasia 		20 0 3 0.11 0 0
CUI: C0156394
Disease: Hypertrophy of clitoris
Hypertrophy of clitoris 		63 0 7 0.11 0 0
CUI: C1859455
Disease: Small anterior fontanelle
Small anterior fontanelle 		11 0 2 0.11 0 0
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		56 0 6 1.0E-01 0 0
CUI: C0266429
Disease: Monorchism
Monorchism 		1 0 1 1.0E-01 0 0
CUI: C0406727
Disease: Orofaciodigital syndrome 4
Orofaciodigital syndrome 4 		1 0 1 1.0E-01 0 0
CUI: C1845292
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B
FANCONI ANEMIA, COMPLEMENTATION GROUP B 		1 0 1 1.0E-01 0 0